Canonical Allele Identifier: CA1594893
Gene: ALK HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.29717666C>T
GRCh37 chr2:g.29940532C>T
Revel Score:
ENST00000389048 (MANE Select) 0.028
ENST00000431873 0.028
gnomAD v2:
2:29940532 C / T
gnomAD v3:
2:29717666 C / T
gnomAD v4:
chr2-29717666-C-T
Joint Max Group AF 0.0001663 (AMR)
Exomes Max Group AF 0.00020649 (AMR)
ClinVar RCV:
RCV000559983
ClinVar Variation:
470896
dbSNP:
778129557
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.29717666C>T , CM000664.2:g.29717666C>T GRCh38
NC_000002.11:g.29940532C>T , CM000664.1:g.29940532C>T GRCh37
NC_000002.10:g.29794036C>T NCBI36
NG_009445.1:g.208901G>A , LRG_488:g.208901G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000389048.8:c.699G>A MANE Select ENSP00000373700.3:p.Met233Ile
ENST00000389048.7:c.699G>A ENSP00000373700.3:p.Met233Ile
ENST00000618119.4:c.-433G>A ENSP00000482733.1:n.-433G>A
NM_004304.4:c.699G>A NP_004295.2:p.Met233Ile
XR_001738688.2:n.1629G>A
NM_004304.5:c.699G>A MANE Select NP_004295.2:p.Met233Ile
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